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. 1990 May;7(1):115-8.
doi: 10.1016/0888-7543(90)90526-z.

Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A

S Murru  1 , L Casula, M Pecorara, P Mori, A Cao, M Pirastu
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Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A

S Murru et al. Genomics. 1990 May.

Abstract

We have characterized an unusual duplication of exon 13 within the factor VIII gene in a patient with a mild form of hemophilia A. This duplication was the result of a nonhomologous breakage and reunion event of two misaligned wild-type chromosomes. Sequence analysis of the breakpoint region revealed the presence of AT-rich sequences and possible topoisomerase I sites, whose involvement in several cases of illegitimate recombination has been postulated.

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